A game changing drug could save hundreds of Canadian kids with spinal muscular atrophy (SMA) from a life of profound disability, but only if their families can afford to pay hundreds of thousands of dollars a year.
SMA is a genetic disease that causes a child’s muscles to weaken over time. Some children eventually end up so weak they can barely lift their heads.
“For the most severely affected, their life is on a ventilator and sometimes motionless,” Dr. Tom Crawford, a professor of neurology and pediatrics at Johns Hopkins Medicine in Baltimore, MD. said. “The kids who are more mildly affected may be able to use a motorized wheel chair,the mildest – the luckiest of the unlucky ones who have this disease are able to walk for a little while.”
Crawford has been working with kids with SMA since the 1980s. For years, he says, doctors could only offer care for the patient’s symptoms because there were no treatments for the disease itself. That changed however with the introduction of a drug called, Spinraza.
“This is one of those things that hits you across the head like a two-by-four. (The data) was so powerful – there’s no doubt that it works.”
Spinraza is one of the relatively new class of drugs known as Antisense Oligonucleotides (ASOs). The drug is injected via spinal tap into a child’s spinal fluid.
“When it’s injected into the spinal fluid, it’s absorbed directly into cells and once inside the cells, it changes the way genes are expressed.
“It’s essentially able to make a child genetically normal.”
While Spinraza can’t reverse the impact of SMA, Crawford says it does appear to be able to stop it. For families impacted by this disease, the discovery has been life changing.
Crystal and Richard of Saskatoon, SK have three children with SMA. Five-and-a-half-year-old Georgia was diagnosed at 18 months and is now in wheelchair. Three-year-old Charlotte was diagnosed before birth, she is still able to walk but has been growing weaker. Thomas, the youngest of the family, began receiving injections of Spinraza as part of a clinical trial when he was less than a month old. Nine months later, Thomas is still symptom-free.
“We are both shocked and overjoyed this drug has come so quickly, the challenge is now trying to get it in the girls as well,” said Richard.
Spinraza has been approved by Health Canada but it has not yet been approved for coverage by any provincial health insurance plans. Each dose costs $125,000 (US) and patients require several doses a year.
“It’s unbelievably expensive, nobody can pay that,” said Dr. Crawford. “Everything seemed to be perfect with this drug until the price was announced. On that day, I thought, ‘Oh my god – how are going to get this drug to the people that can benefit from it.'”
The decision whether to fund Spinraza is currently being reviewed by Canada’s national review committee. If approved, the drug will then go to provincial drug advisory committees as well.
The ultimate decision is then up to each provincial ministry of health.
According to the non-profit organization Cure SMA – the entire process is expected to take between 12 and 24 months. For Crystal, that’s a long wait when so much of her daughters’ abilities are at stake.
“We want access to the drug so that the girls can stay where they’re at and not lose any more of their abilities during this waiting time.”